Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

abstract：:PCR protocols incorporating fluorescently labeled multiplexed primer combinations were developed to produce a linkage map for bison. Three hundred fifty eight microsatellite loci spanning all 29 autosomes were genotyped via 83 PCR multiplexes and nine individual amplifications. A total of 292 markers were integrated i...

journal_title：Cytogenetic and genome research

authors： Schnabel RD,Taylor JF,Derr JN

更新日期：2003-01-01 00:00:00

abstract：:This article presents the first physical mapping carried out in the Senegalese sole (Solea senegalensis), an important marine fish species of Southern Europe. Eight probes were designated to pick up genes of interest in aquaculture (candidate genes) from a bacterial artificial chromosome (BAC) library using a method o...

journal_title：Cytogenetic and genome research

authors： García-Cegarra A,Merlo MA,Ponce M,Portela-Bens S,Cross I,Manchado M,Rebordinos L

更新日期：2013-01-01 00:00:00

abstract：:A single female with 206 chromosomes and another 26 females with 156 chromosomes identified as Prussian carp, Carassius gibelio, and 5 individuals with 100 chromosomes identified as crucian carp, C. carassius, were sampled during field survey in one locality in the upper Elbe River. To identify the origin of females w...

journal_title：Cytogenetic and genome research

authors： Knytl M,Kalous L,Symonová R,Rylková K,Ráb P

更新日期：2013-01-01 00:00:00

abstract：:In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive ...

journal_title：Cytogenetic and genome research

authors： Soler A,Morales C,Mademont-Soler I,Margarit E,Borrell A,Borobio V,Muñoz M,Sánchez A

更新日期：2017-01-01 00:00:00

abstract：:The karyotype of the pine woods treefrog, Hyla femoralis, is characterized by primitive XY female/XX male sex chromosomes. The sole difference between the X and the Y is the presence of a nucleolus organizer region (NOR) in the X. Due to a deletion of the NOR in the Y, this chromosome is distinctly smaller than the X....

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2003-01-01 00:00:00

abstract：:Reciprocal translocations pose a serious problem in pig breeding due to the reduced fertility of the carriers. This paper presents a new reciprocal translocation in a phenotypically normal, but hypoprolific (20% reduction) boar. Chromosome banding as well as the FISH technique with the use of BAC and telomeric probes ...

journal_title：Cytogenetic and genome research

authors： Kociucka B,Szczerbal I,Bugaj S,Orsztynowicz M,Switonski M

更新日期：2014-01-01 00:00:00

abstract：:Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...

journal_title：Cytogenetic and genome research

authors： Both J,Wu T,Ten Asbroek AL,Baas F,Hulsebos TJ

更新日期：2016-01-01 00:00:00

abstract：:The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...

journal_title：Cytogenetic and genome research

authors： Hansen M,Knorr C,Hall AJ,Broad TE,Brenig B

更新日期：2007-01-01 00:00:00

abstract：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 00:00:00

abstract：:The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...

journal_title：Cytogenetic and genome research

authors： Perrocheau M,Boutreux V,Chadi-Taourit S,Di Meo GP,Perucatti A,Incarnato D,Cribiu EP,Guérin G,Iannuzzi L

更新日期：2005-01-01 00:00:00

abstract：:To investigate the karyotypic relationships between Chinese muntjac (Muntiacus reevesi), forest musk deer (Moschus berezovskii) and gayal (Bos frontalis), a complete set of Chinese muntjac chromosome-specific painting probes has been assigned to G-banded chromosomes of these three species. Sixteen autosomal probes (i....

journal_title：Cytogenetic and genome research

authors： Chi J,Fu B,Nie W,Wang J,Graphodatsky AS,Yang F

更新日期：2005-01-01 00:00:00

abstract：:In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5 Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as ...

journal_title：Cytogenetic and genome research

authors： Liu Y,Song M,Luo W,Xia Y,Zeng X

更新日期：2019-01-01 00:00:00

abstract：:Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new ...

journal_title：Cytogenetic and genome research

authors： Nergadze SG,Belloni E,Piras FM,Khoriauli L,Mazzagatti A,Vella F,Bensi M,Vitelli V,Giulotto E,Raimondi E

更新日期：2014-01-01 00:00:00

abstract：:Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a dele...

journal_title：Cytogenetic and genome research

authors： Hulick PJ,Noonan KM,Kulkarni S,Donovan DJ,Listewnik M,Ihm C,Stoler JM,Weremowicz S

更新日期：2009-01-01 00:00:00

abstract：:R-banding chromosomal studies of 21 species of Lemuriformes allowed us to reconstruct the presumed ancestral karyotype of all the Lemuriformes except for Daubentoniidae and permitted the construction of their phylogenetic tree. Chromosome painting with fluorescently labeled heterologous DNA probes permitted comparativ...

journal_title：Cytogenetic and genome research

authors： Warter S,Hauwy M,Dutrillaux B,Rumpler Y

更新日期：2005-01-01 00:00:00

abstract：:Since the discovery of SRY/SRY as a testis-determining gene on the mammalian Y chromosome in 1990, extensive studies have been carried out on the immediate target of SRY/SRY and genes functioning in the course of testis development. Comparative studies in non-mammalian vertebrates including birds have failed to find a...

journal_title：Cytogenetic and genome research

authors： Mizuno S,Kunita R,Nakabayashi O,Kuroda Y,Arai N,Harata M,Ogawa A,Itoh Y,Teranishi M,Hori T

更新日期：2002-01-01 00:00:00

abstract：:Phyllotines are sigmodontine rodents endemic to South America with broad genetic variability, Robertsonian polymorphisms being the most frequent. Moreover, this taxon includes a species with multiple sex chromosomes, which is infrequent in mammals. However, molecular cytogenetic techniques have never been applied to p...

journal_title：Cytogenetic and genome research

authors： Lanzone C,Labaroni C,Suárez N,Rodríguez D,Herrera ML,Bolzán AD

更新日期：2015-01-01 00:00:00

abstract：:Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome s...

journal_title：Cytogenetic and genome research

authors： Ciuladaite Z,Preiksaitiene E,Utkus A,Kučinskas V

更新日期：2014-01-01 00:00:00

abstract：:Cytogenetic maps depict the location and order of markers along chromosomes. Cytogenetic maps are important in genome research as they relate the genetic data and molecular sequences to the morphological features of chromosomes. In this paper, we discuss various methods used in cytogenetic mapping in maize, with speci...

journal_title：Cytogenetic and genome research

authors： Wang CJ,Chen CC

更新日期：2005-01-01 00:00:00

abstract：:Understanding how increased genome size and diversity within polyploid genomes impacts plant evolution and breeding continues to be challenging. Although historical studies by McClintock suggested the importance of transposable elements mediated by polyploidisation on genomic changes, data from plant crosses remain sc...

journal_title：Cytogenetic and genome research

authors： Bento M,Tomás D,Viegas W,Silva M

更新日期：2013-01-01 00:00:00

abstract：:Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal...

journal_title：Cytogenetic and genome research

authors： Hornak M,Kubicek D,Broz P,Hulinska P,Hanzalova K,Griffin D,Machatkova M,Rubes J

更新日期：2016-01-01 00:00:00

abstract：:Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutar...

journal_title：Cytogenetic and genome research

authors： Galetzka D,Weis E,Rittner G,Schindler D,Haaf T

更新日期：2008-01-01 00:00:00

abstract：:Turtle karyotypes are highly conserved compared to other vertebrates; yet, variation in diploid number (2n = 26-68) reflects profound genomic reorganization, which correlates with evolutionary turnovers in sex determination. We evaluate the published literature and newly collected comparative cytogenetic data (G- and ...

journal_title：Cytogenetic and genome research

authors： Montiel EE,Badenhorst D,Lee LS,Literman R,Trifonov V,Valenzuela N

更新日期：2016-01-01 00:00:00

abstract：:We analyzed repeat sequences composition in the genome of cucumber inbred line 9930 using whole-genome shotgun reads. The analysis showed that satellite DNA sequences are the most dominant components in the cucumber genome. The distribution pattern of several tandem repeat sequences (Type I/II, Type III and Type IV) o...

journal_title：Cytogenetic and genome research

authors： Han YH,Zhang ZH,Liu JH,Lu JY,Huang SW,Jin WW

更新日期：2008-01-01 00:00:00

abstract：:Chromosomal locations and amounts of 5-methylcytosine-rich chromosome regions were detected in the karyotypes of 13 bird species by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 7 orders and 10 families of modern (Neognathae) and primitive (Palaeognathae) birds ...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2017-01-01 00:00:00

abstract：:The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter's syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidi...

journal_title：Cytogenetic and genome research

authors： Ferlin A,Garolla A,Foresta C

更新日期：2005-01-01 00:00:00

abstract：:Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is caused by an insertion of a SINE element into the canine PMEL gene. Althou...

journal_title：Cytogenetic and genome research

authors： Ballif BC,Ramirez CJ,Carl CR,Sundin K,Krug M,Zahand A,Shaffer LG,Flores-Smith H

更新日期：2018-08-03 00:00:00

abstract：:We characterized the DTF2 satellite DNA family of the clam Donaxtrunculus and compared its chromosomal localization with cytogenetic data revealed by fluorochrome banding, C-banding, and 28S rDNA FISH. In contrast to the other satellites detected previously in this species, DTF2 is an abundant (2%) GC-rich satellite t...

journal_title：Cytogenetic and genome research

authors： Petrović V,Pérez-García C,Pasantes JJ,Satović E,Prats E,Plohl M

更新日期：2009-01-01 00:00:00

abstract：:Immunolabeling using site-specific antibodies against phosphorylated histone H3 at serine 10 or serine 28 revealed in plants an almost similar temporal and spatial pattern of both post-translational modification sites at mitosis and meiosis. During the first meiotic division the entire chromosomes are highly H3 phosph...

journal_title：Cytogenetic and genome research

authors： Gernand D,Demidov D,Houben A

更新日期：2003-01-01 00:00:00

abstract：:The common fragile sites (CFSs) are large regions of profound genomic instability found in all individuals. A number of the CFSs have been found to span genes that extend over large genomic regions (>700 kb). The expression of these genes is frequently abrogated in a number of different cancers and several of them hav...

journal_title：Cytogenetic and genome research

authors： Soderberg C,Perez DS,Ukpo OC,Liang X,O'Reilly AG,Moore EJ,Kademani D,Smith DI

更新日期：2008-01-01 00:00:00